polyglucosan body myopathy 1 with or without immunodeficiency
A rare, genetic, glycogen storage disorder characterized by polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive, usually dilated, cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and autoinflammation, presenting with recurrent bacterial infections, have also been reported.
What is polyglucosan body myopathy 1 with or without immunodeficiency?
polyglucosan body myopathy 1 with or without immunodeficiency is a recognized medical condition. This page explains what it is, symptoms that may accompany it, and the lab tests healthcare providers sometimes use to investigate it. It is educational information only and is not a diagnosis.
If you think you may have polyglucosan body myopathy 1 with or without immunodeficiency, speak with a qualified healthcare provider for evaluation and guidance.
Symptoms that may be associated with polyglucosan body myopathy 1 with or without immunodeficiency
When to seek medical care
Seek medical advice if you have symptoms that are severe, persistent, or affecting your daily life. Emergency care is needed for symptoms like chest pain, difficulty breathing, confusion, or severe weakness.